Spinal muscular atrophy ( SMA )

Spinal muscular atrophy ( SMA ):

  • Degenerative disease of motor neurons caused by the mutation of SMN gene with autosomal recessive inheritance.

  • Clinical features: Usually starts in infancy with hypotonia , hyporeflexia , and thin muscle mass.
    ( Significant Prenatal history of polyhydramnios and decreased foetal movements )

  • Diagnosis: Genetic testing for SMN gene mutation .
    Muscle biopsy for cases of negative genetic testing.

  • Treatment: symptomatic and supportive.

  • Recent update : NUSINERSEN ( anti sense oligonucleotide ) is the newly approved (1st ) drug by FDA for treatment of SMA.